Genetic analysis and prenatal diagnosis of two Chinese families with split hand foot malformation.
- VernacularTitle:两个手足裂畸形家系致病位点的定位和产前诊断
- Author:
Hui WANG
1
;
Jiansheng XIE
;
Wubin CHEN
;
Qian GENG
;
Xiaoxin XU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; China; Chromosome Deletion; Chromosome Duplication; Chromosomes, Human, Pair 10; genetics; Chromosomes, Human, Pair 7; genetics; Female; Fetal Diseases; diagnosis; genetics; Foot Deformities, Congenital; diagnosis; genetics; Hand Deformities, Congenital; diagnosis; genetics; Humans; Infant, Newborn; Male; Pedigree; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2014;31(3):280-284
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify genomic aberrations underlying pathogenesis of split hand foot malformation (SHFM) in two Chinese families, and to provide genetic counseling and prenatal diagnosis for them.
METHODSTwo sets of peripheral blood and amniotic fluid samples were collected from the patients. One was processed with routine culture and karyotype analysis. For another set, DNA was extracted and analyzed with array-based comparative genomic hybridization (array-CGH).
RESULTSKaryotype analysis of peripheral blood samples for both probands was normal. Karyotype analysis of the amniotic fluid from family 1 has found no abnormality. However, analysis of amniotic fluid samples from the second family showed del(7)(q21q22.1). By array-CGH analysis, both blood and amniotic fluid samples from the first family showed a 662.3 kb dup(10q24.31q24.32). Array-CGH analysis of the blood sample from the second family was normal, whilst analysis of amniotic fluid sample revealed a 19.97 Mb del(7q11.23q21.3).
CONCLUSIONArray-CGH features high resolution, high accuracy and rapid diagnosis for unbalanced chromosomal aberration. The dup(10q24.31q24.32) and 19.97 Mb del(7q11.23q21.3) have been the cause of SHFM in the two families. Genetic counseling and prenatal diagnosis have been provided for both families in order to prevent this birth defect.
